Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 1997;9(2):110-7.
doi: 10.1002/(SICI)1098-1004(1997)9:2<110::AID-HUMU2>3.0.CO;2-D.

Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene

J A van den Hurk  1 , M Schwartz, H van Bokhoven, T J van de Pol, L Bogerd, A J Pinckers, E M Bleeker-Wagemakers, I H Pawlowitzki, K Rüther, H H Ropers, F P Cremers
Affiliations
Free article
Review

Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene

J A van den Hurk et al. Hum Mutat. 1997.
Free article

Abstract

Choroideremia (CHM) is an X-linked recessive eye disease that results from mutations involving the Rab escort protein-1 (REP-1) gene. In 18 patients deletions of different sizes have been found. Two females suffering from CHM were reported to have translocations that disrupt the REP-1 gene. In 22 patients, small mutations have been identified. Interestingly, these are all nonsense, frameshift or splice-site mutations; with one possible exception, missense mutations have not been found. This comprises all the known mutations in the disease.

PubMed Disclaimer

Publication types

LinkOut - more resources